Allele Registry

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Canonical Allele Identifier: PA913191825

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 626103

ClinVar RCV Id: RCV000768216 RCV001191894 RCV003999915

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Val1488Leu	CA392353828 NM_000138.5:c.4462G>T CA392353829 NM_000138.5:c.4462G>C